{"id":"https://openalex.org/W4416296100","doi":"https://doi.org/10.3390/biom15111612","title":"Altered Short Non-Coding RNA Landscape in the Hippocampus of a Mouse Model of CDKL5 Deficiency Disorder","display_name":"Altered Short Non-Coding RNA Landscape in the Hippocampus of a Mouse Model of CDKL5 Deficiency Disorder","publication_year":2025,"publication_date":"2025-11-17","ids":{"openalex":"https://openalex.org/W4416296100","doi":"https://doi.org/10.3390/biom15111612","pmid":"https://pubmed.ncbi.nlm.nih.gov/41301530","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/12650334"},"language":"en","primary_location":{"id":"doi:10.3390/biom15111612","doi":"https://doi.org/10.3390/biom15111612","is_oa":true,"landing_page_url":"https://doi.org/10.3390/biom15111612","pdf_url":"https://www.mdpi.com/2218-273X/15/11/1612/pdf?version=1763381208","source":{"id":"https://openalex.org/S4210236520","display_name":"Biomolecules","issn_l":"2218-273X","issn":["2218-273X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Biomolecules","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.mdpi.com/2218-273X/15/11/1612/pdf?version=1763381208","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5085178659","display_name":"Bilal El\u2010Mansoury","orcid":"https://orcid.org/0000-0002-2583-7515","observed_orcids":["https://orcid.org/0000-0002-2583-7515"]},"institutions":[{"id":"https://openalex.org/I142762351","display_name":"Royal College of Surgeons in Ireland","ror":"https://ror.org/01hxy9878","country_code":"IE","type":"education","lineage":["https://openalex.org/I142762351"]}],"countries":["IE"],"is_corresponding":false,"raw_author_name":"Bilal El-Mansoury","raw_affiliation_strings":["Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland","FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland","institution_ids":["https://openalex.org/I142762351"]},{"raw_affiliation_string":"FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland","institution_ids":["https://openalex.org/I142762351"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075438803","display_name":"Adrian Hayes","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I142762351","display_name":"Royal College of Surgeons in Ireland","ror":"https://ror.org/01hxy9878","country_code":"IE","type":"education","lineage":["https://openalex.org/I142762351"]}],"countries":["IE"],"is_corresponding":false,"raw_author_name":"Adrian Hayes","raw_affiliation_strings":["School of Medicine, Royal College of Surgeon, D02 YN77 Dublin, Ireland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"School of Medicine, Royal College of Surgeon, D02 YN77 Dublin, Ireland","institution_ids":["https://openalex.org/I142762351"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5119506563","display_name":"Samuel Egan","orcid":"https://orcid.org/0009-0008-9212-2529","observed_orcids":["https://orcid.org/0009-0008-9212-2529"]},"institutions":[{"id":"https://openalex.org/I142762351","display_name":"Royal College of Surgeons in Ireland","ror":"https://ror.org/01hxy9878","country_code":"IE","type":"education","lineage":["https://openalex.org/I142762351"]}],"countries":["IE"],"is_corresponding":false,"raw_author_name":"Samuel Egan","raw_affiliation_strings":["Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland","FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland"],"raw_orcid":"https://orcid.org/0009-0008-9212-2529","affiliations":[{"raw_affiliation_string":"Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland","institution_ids":["https://openalex.org/I142762351"]},{"raw_affiliation_string":"FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland","institution_ids":["https://openalex.org/I142762351"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020695784","display_name":"J. S. Higgins","orcid":"https://orcid.org/0009-0006-7786-5557","observed_orcids":["https://orcid.org/0009-0006-7786-5557"]},"institutions":[{"id":"https://openalex.org/I142762351","display_name":"Royal College of Surgeons in Ireland","ror":"https://ror.org/01hxy9878","country_code":"IE","type":"education","lineage":["https://openalex.org/I142762351"]}],"countries":["IE"],"is_corresponding":false,"raw_author_name":"Jordan Higgins","raw_affiliation_strings":["Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland","FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland"],"raw_orcid":"https://orcid.org/0009-0006-7786-5557","affiliations":[{"raw_affiliation_string":"Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland","institution_ids":["https://openalex.org/I142762351"]},{"raw_affiliation_string":"FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland","institution_ids":["https://openalex.org/I142762351"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Stephen B. Keane","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I142762351","display_name":"Royal College of Surgeons in Ireland","ror":"https://ror.org/01hxy9878","country_code":"IE","type":"education","lineage":["https://openalex.org/I142762351"]}],"countries":["IE"],"is_corresponding":false,"raw_author_name":"Stephen B. Keane","raw_affiliation_strings":["Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland","FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland","institution_ids":["https://openalex.org/I142762351"]},{"raw_affiliation_string":"FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland","institution_ids":["https://openalex.org/I142762351"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002757247","display_name":"Elena Langa","orcid":"https://orcid.org/0000-0003-4021-5834","observed_orcids":["https://orcid.org/0000-0003-4021-5834"]},"institutions":[{"id":"https://openalex.org/I142762351","display_name":"Royal College of Surgeons in Ireland","ror":"https://ror.org/01hxy9878","country_code":"IE","type":"education","lineage":["https://openalex.org/I142762351"]}],"countries":["IE"],"is_corresponding":false,"raw_author_name":"Elena Langa","raw_affiliation_strings":["Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland","FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland","institution_ids":["https://openalex.org/I142762351"]},{"raw_affiliation_string":"FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland","institution_ids":["https://openalex.org/I142762351"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Erva Ghani","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I142762351","display_name":"Royal College of Surgeons in Ireland","ror":"https://ror.org/01hxy9878","country_code":"IE","type":"education","lineage":["https://openalex.org/I142762351"]}],"countries":["IE"],"is_corresponding":false,"raw_author_name":"Erva Ghani","raw_affiliation_strings":["Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland","FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland","institution_ids":["https://openalex.org/I142762351"]},{"raw_affiliation_string":"FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland","institution_ids":["https://openalex.org/I142762351"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087651926","display_name":"Morten Trillingsgaard Ven\u00f8","orcid":"https://orcid.org/0000-0002-4754-5193","observed_orcids":["https://orcid.org/0000-0002-4754-5193"]},"institutions":[{"id":"https://openalex.org/I204337017","display_name":"Aarhus University","ror":"https://ror.org/01aj84f44","country_code":"DK","type":"education","lineage":["https://openalex.org/I204337017"]},{"id":"https://openalex.org/I4210166764","display_name":"Omiics (Denmark)","ror":"https://ror.org/05gp53b91","country_code":"DK","type":"company","lineage":["https://openalex.org/I4210166764"]}],"countries":["DK"],"is_corresponding":false,"raw_author_name":"Morten T. Ven\u00f8","raw_affiliation_strings":["Department of Molecular Biology and Genetics, Aarhus University, 8000 Aarhus, Denmark","Interdisciplinary Nanoscience Centre, Aarhus University, 8000 Aarhus, Denmark","Omiics ApS, 8200 Aarhus, Denmark"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Biology and Genetics, Aarhus University, 8000 Aarhus, Denmark","institution_ids":["https://openalex.org/I204337017"]},{"raw_affiliation_string":"Interdisciplinary Nanoscience Centre, Aarhus University, 8000 Aarhus, Denmark","institution_ids":["https://openalex.org/I204337017"]},{"raw_affiliation_string":"Omiics ApS, 8200 Aarhus, Denmark","institution_ids":["https://openalex.org/I4210166764"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023075854","display_name":"Mona Heiland","orcid":"https://orcid.org/0000-0002-4678-7115","observed_orcids":["https://orcid.org/0000-0002-4678-7115"]},"institutions":[{"id":"https://openalex.org/I142762351","display_name":"Royal College of Surgeons in Ireland","ror":"https://ror.org/01hxy9878","country_code":"IE","type":"education","lineage":["https://openalex.org/I142762351"]}],"countries":["IE"],"is_corresponding":false,"raw_author_name":"Mona Heiland","raw_affiliation_strings":["Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland","FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland","institution_ids":["https://openalex.org/I142762351"]},{"raw_affiliation_string":"FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland","institution_ids":["https://openalex.org/I142762351"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002978004","display_name":"David Clifford Henshall","orcid":"https://orcid.org/0000-0001-6237-9632","observed_orcids":["https://orcid.org/0000-0001-6237-9632"]},"institutions":[{"id":"https://openalex.org/I142762351","display_name":"Royal College of Surgeons in Ireland","ror":"https://ror.org/01hxy9878","country_code":"IE","type":"education","lineage":["https://openalex.org/I142762351"]}],"countries":["IE"],"is_corresponding":false,"raw_author_name":"David C. Henshall","raw_affiliation_strings":["Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland","FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland","institution_ids":["https://openalex.org/I142762351"]},{"raw_affiliation_string":"FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland","institution_ids":["https://openalex.org/I142762351"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5049051496","display_name":"Omar Mamad","orcid":"https://orcid.org/0000-0002-4517-3381","observed_orcids":["https://orcid.org/0000-0002-4517-3381"]},"institutions":[{"id":"https://openalex.org/I142762351","display_name":"Royal College of Surgeons in Ireland","ror":"https://ror.org/01hxy9878","country_code":"IE","type":"education","lineage":["https://openalex.org/I142762351"]}],"countries":["IE"],"is_corresponding":true,"raw_author_name":"Omar Mamad","raw_affiliation_strings":["Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland","FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland","institution_ids":["https://openalex.org/I142762351"]},{"raw_affiliation_string":"FutureNeuro Research Ireland Centre for Translational Brain Science, RCSI University of Medicine & Health Sciences, D02 YN77 Dublin, Ireland","institution_ids":["https://openalex.org/I142762351"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5049051496"],"corresponding_institution_ids":["https://openalex.org/I142762351"],"apc_list":{"value":2700,"currency":"CHF","value_usd":3258},"apc_paid":{"value":2700,"currency":"CHF","value_usd":3258},"fwci":1.5655,"has_fulltext":true,"cited_by_count":3,"citation_normalized_percentile":{"value":0.83795377,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":97,"max":98},"biblio":{"volume":"15","issue":"11","first_page":"1612","last_page":"1612"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.49630001187324524,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.49630001187324524,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10515","display_name":"Cancer-related molecular mechanisms research","score":0.2079000025987625,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10062","display_name":"MicroRNA in disease regulation","score":0.08820000290870667,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/cdkl5-deficiency-disorder","display_name":"CDKL5 deficiency disorder","score":1.0},{"id":"https://openalex.org/keywords/hippocampus","display_name":"hippocampus","score":0.6299999952316284},{"id":"https://openalex.org/keywords/short-non-coding-rnas","display_name":"short non-coding RNAs","score":0.871999979019165},{"id":"https://openalex.org/keywords/mirna-dysregulation","display_name":"microRNA dysregulation","score":0.7720000147819519},{"id":"https://openalex.org/keywords/mir-200c","display_name":"miR-200c","score":0.9509999752044678},{"id":"https://openalex.org/keywords/developmental-and-epileptic-encephalopathy","display_name":"developmental and epileptic encephalopathy","score":0.878000020980835},{"id":"https://openalex.org/keywords/small-nucleolar-rna","display_name":"small nucleolar RNA","score":0.7720000147819519},{"id":"https://openalex.org/keywords/small-nuclear-rna","display_name":"small nuclear RNA","score":0.9079999923706055},{"id":"https://openalex.org/keywords/trna","display_name":"tRNA","score":0.75},{"id":"https://openalex.org/keywords/biomarkers","display_name":"biomarkers","score":0.7820000052452087}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7656000256538391},{"id":"https://openalex.org/C67705224","wikidata":"https://www.wikidata.org/wiki/Q11053","display_name":"RNA","level":3,"score":0.5726000070571899},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.544700026512146},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5220000147819519},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.5067999958992004},{"id":"https://openalex.org/C2781161787","wikidata":"https://www.wikidata.org/wiki/Q48360","display_name":"Hippocampus","level":2,"score":0.4659000039100647},{"id":"https://openalex.org/C162317418","wikidata":"https://www.wikidata.org/wiki/Q252857","display_name":"Transcriptome","level":4,"score":0.4480000138282776},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.4397999942302704},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.43459999561309814},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4309000074863434},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.4284000098705292},{"id":"https://openalex.org/C194993378","wikidata":"https://www.wikidata.org/wiki/Q427087","display_name":"Non-coding RNA","level":4,"score":0.42730000615119934},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4269999861717224},{"id":"https://openalex.org/C165864922","wikidata":"https://www.wikidata.org/wiki/Q411391","display_name":"Regulation of gene expression","level":3,"score":0.3756999969482422},{"id":"https://openalex.org/C145059251","wikidata":"https://www.wikidata.org/wiki/Q310899","display_name":"microRNA","level":3,"score":0.35690000653266907},{"id":"https://openalex.org/C41282012","wikidata":"https://www.wikidata.org/wiki/Q3928341","display_name":"RNA-binding protein","level":4,"score":0.3325999975204468},{"id":"https://openalex.org/C21786251","wikidata":"https://www.wikidata.org/wiki/Q14886350","display_name":"RNA editing","level":4,"score":0.3224000036716461},{"id":"https://openalex.org/C68838962","wikidata":"https://www.wikidata.org/wiki/Q852654","display_name":"Haploinsufficiency","level":4,"score":0.3208000063896179},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3165999948978424},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3156999945640564},{"id":"https://openalex.org/C2780317758","wikidata":"https://www.wikidata.org/wiki/Q3339235","display_name":"Neurological disorder","level":3,"score":0.29019999504089355},{"id":"https://openalex.org/C10162356","wikidata":"https://www.wikidata.org/wiki/Q1135939","display_name":"Pathophysiology","level":2,"score":0.2815999984741211}],"mesh":[{"descriptor_ui":"D000073376","descriptor_name":"Epileptic Syndromes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000073376","descriptor_name":"Epileptic Syndromes","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004195","descriptor_name":"Disease Models, Animal","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006624","descriptor_name":"Hippocampus","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013036","descriptor_name":"Spasms, Infantile","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D013036","descriptor_name":"Spasms, Infantile","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D013036","descriptor_name":"Spasms, Infantile","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D017346","descriptor_name":"Protein Serine-Threonine Kinases","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D017346","descriptor_name":"Protein Serine-Threonine Kinases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D035683","descriptor_name":"MicroRNAs","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D058727","descriptor_name":"RNA, Small Untranslated","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D058727","descriptor_name":"RNA, Small Untranslated","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true}],"locations_count":5,"locations":[{"id":"doi:10.3390/biom15111612","doi":"https://doi.org/10.3390/biom15111612","is_oa":true,"landing_page_url":"https://doi.org/10.3390/biom15111612","pdf_url":"https://www.mdpi.com/2218-273X/15/11/1612/pdf?version=1763381208","source":{"id":"https://openalex.org/S4210236520","display_name":"Biomolecules","issn_l":"2218-273X","issn":["2218-273X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Biomolecules","raw_type":"journal-article"},{"id":"doi:10.20944/preprints202509.0061.v1","doi":"https://doi.org/10.20944/preprints202509.0061.v1","is_oa":true,"landing_page_url":"https://doi.org/10.20944/preprints202509.0061.v1","pdf_url":"https://www.preprints.org/frontend/manuscript/d5c4d35d9cc061d045387a1ccd1e574e/download_pub","source":{"id":"https://openalex.org/S6309402219","display_name":"Preprints.org","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":null,"raw_type":"posted-content"},{"id":"pmid:41301530","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/41301530","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Biomolecules","raw_type":"Journal Article"},{"id":"pmh:oai:doaj.org/article:b6c905721304490684dc8a78bafa20da","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/b6c905721304490684dc8a78bafa20da","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Biomolecules, Vol 15, Iss 11, p 1612 (2025)","raw_type":"article"},{"id":"pmh:oai:pure.atira.dk:openaire/fc0f78f3-f46e-4d9f-b889-bba64349c300","doi":null,"is_oa":true,"landing_page_url":"https://pure.au.dk/portal/en/publications/fc0f78f3-f46e-4d9f-b889-bba64349c300","pdf_url":null,"source":null,"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"El-Mansoury, B, Hayes, A, Egan, S, Higgins, J, Keane, S B, Langa, E, Ghani, E, Ven\u00f8, M T, Heiland, M, Henshall, D C & Mamad, O 2025, 'Altered Short Non-Coding RNA Landscape in the Hippocampus of a Mouse Model of CDKL5 Deficiency Disorder', Biomolecules, vol. 15, no. 11, 1612. https://doi.org/10.3390/biom15111612","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.3390/biom15111612","doi":"https://doi.org/10.3390/biom15111612","is_oa":true,"landing_page_url":"https://doi.org/10.3390/biom15111612","pdf_url":"https://www.mdpi.com/2218-273X/15/11/1612/pdf?version=1763381208","source":{"id":"https://openalex.org/S4210236520","display_name":"Biomolecules","issn_l":"2218-273X","issn":["2218-273X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Biomolecules","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8371999859809875}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1886761731","display_name":null,"funder_award_id":"16/RC/3948","funder_id":"https://openalex.org/F8766430056","funder_display_name":"Research Ireland"},{"id":"https://openalex.org/G3036844725","display_name":null,"funder_award_id":"CDKL5","funder_id":"https://openalex.org/F4320318029","funder_display_name":"LouLou Foundation"},{"id":"https://openalex.org/G3414888229","display_name":null,"funder_award_id":"21/ RC/10294_P2","funder_id":"https://openalex.org/F8766430056","funder_display_name":"Research Ireland"},{"id":"https://openalex.org/G4717828418","display_name":null,"funder_award_id":"22/PATH-S/10668 and 16/RC/3948 and 21/RC/10294_P2","funder_id":"https://openalex.org/F8766430056","funder_display_name":"Research Ireland"},{"id":"https://openalex.org/G5383795852","display_name":null,"funder_award_id":"22/PATH\u2010S/10668","funder_id":"https://openalex.org/F8766430056","funder_display_name":"Research Ireland"}],"funders":[{"id":"https://openalex.org/F4320309370","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10"},{"id":"https://openalex.org/F4320313911","display_name":"Royal College of Surgeons in Ireland","ror":"https://ror.org/01hxy9878"},{"id":"https://openalex.org/F4320318029","display_name":"LouLou Foundation","ror":"https://ror.org/03jerjg25"},{"id":"https://openalex.org/F8766430056","display_name":"Research Ireland","ror":"https://ror.org/010t7sr36"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4416296100.pdf","grobid_xml":"https://content.openalex.org/works/W4416296100.grobid-xml"},"referenced_works_count":149,"referenced_works":["https://openalex.org/W1499225657","https://openalex.org/W1539959559","https://openalex.org/W1542426682","https://openalex.org/W1795678531","https://openalex.org/W1871702797","https://openalex.org/W1970642176","https://openalex.org/W1973596898","https://openalex.org/W1978560967","https://openalex.org/W1980789245","https://openalex.org/W1981913255","https://openalex.org/W1981988708","https://openalex.org/W1999024554","https://openalex.org/W2000761817","https://openalex.org/W2004271888","https://openalex.org/W2008627757","https://openalex.org/W2013405241","https://openalex.org/W2017910292","https://openalex.org/W2026672686","https://openalex.org/W2032679533","https://openalex.org/W2033960115","https://openalex.org/W2035683139","https://openalex.org/W2044545834","https://openalex.org/W2046224798","https://openalex.org/W2056831129","https://openalex.org/W2059117644","https://openalex.org/W2061989469","https://openalex.org/W2062688476","https://openalex.org/W2066608439","https://openalex.org/W2067267561","https://openalex.org/W2070777085","https://openalex.org/W2076018693","https://openalex.org/W2076825430","https://openalex.org/W2076826746","https://openalex.org/W2084971062","https://openalex.org/W2089278672","https://openalex.org/W2094253263","https://openalex.org/W2094380024","https://openalex.org/W2112732396","https://openalex.org/W2121235255","https://openalex.org/W2128799582","https://openalex.org/W2130913891","https://openalex.org/W2133968430","https://openalex.org/W2134629862","https://openalex.org/W2135126450","https://openalex.org/W2135730315","https://openalex.org/W2140995557","https://openalex.org/W2146997290","https://openalex.org/W2149403492","https://openalex.org/W2150395782","https://openalex.org/W2162128852","https://openalex.org/W2183806586","https://openalex.org/W2186949423","https://openalex.org/W2195191066","https://openalex.org/W2210080033","https://openalex.org/W2328453756","https://openalex.org/W2344345962","https://openalex.org/W2474313821","https://openalex.org/W2514010010","https://openalex.org/W2535271053","https://openalex.org/W2552681109","https://openalex.org/W2567902223","https://openalex.org/W2579869402","https://openalex.org/W2620580060","https://openalex.org/W2729754028","https://openalex.org/W2765155499","https://openalex.org/W2767002195","https://openalex.org/W2783917615","https://openalex.org/W2797414570","https://openalex.org/W2800151111","https://openalex.org/W2802705617","https://openalex.org/W2806435205","https://openalex.org/W2848432483","https://openalex.org/W2884899270","https://openalex.org/W2892383969","https://openalex.org/W2894366250","https://openalex.org/W2895740282","https://openalex.org/W2898433137","https://openalex.org/W2901318957","https://openalex.org/W2903232440","https://openalex.org/W2924873081","https://openalex.org/W2935212090","https://openalex.org/W2936936173","https://openalex.org/W2939339997","https://openalex.org/W2943807724","https://openalex.org/W2945010710","https://openalex.org/W2952069627","https://openalex.org/W2958456424","https://openalex.org/W2970358232","https://openalex.org/W2993347499","https://openalex.org/W3022661430","https://openalex.org/W3023248227","https://openalex.org/W3032951351","https://openalex.org/W3034723659","https://openalex.org/W3083886360","https://openalex.org/W3129924574","https://openalex.org/W3176707816","https://openalex.org/W3199659529","https://openalex.org/W3200993708","https://openalex.org/W3204854304","https://openalex.org/W4200473711","https://openalex.org/W4210448066","https://openalex.org/W4211258750","https://openalex.org/W4224440073","https://openalex.org/W4225324638","https://openalex.org/W4236434476","https://openalex.org/W4245575460","https://openalex.org/W4251547518","https://openalex.org/W4280506442","https://openalex.org/W4280517292","https://openalex.org/W4281732229","https://openalex.org/W4283216555","https://openalex.org/W4284885574","https://openalex.org/W4285797026","https://openalex.org/W4292696092","https://openalex.org/W4295763117","https://openalex.org/W4308555963","https://openalex.org/W4308834893","https://openalex.org/W4313415277","https://openalex.org/W4313502829","https://openalex.org/W4377242500","https://openalex.org/W4384664908","https://openalex.org/W4386554475","https://openalex.org/W4387157796","https://openalex.org/W4387216031","https://openalex.org/W4387998734","https://openalex.org/W4388214275","https://openalex.org/W4389564484","https://openalex.org/W4389893100","https://openalex.org/W4389925131","https://openalex.org/W4390639803","https://openalex.org/W4392233436","https://openalex.org/W4392732375","https://openalex.org/W4393317769","https://openalex.org/W4399698923","https://openalex.org/W4400010029","https://openalex.org/W4400452820","https://openalex.org/W4400858801","https://openalex.org/W4401545658","https://openalex.org/W4404343406","https://openalex.org/W4405680582","https://openalex.org/W4406727310","https://openalex.org/W4407295868","https://openalex.org/W4408997132","https://openalex.org/W4409871400","https://openalex.org/W4410710938","https://openalex.org/W4410851602","https://openalex.org/W4412018586","https://openalex.org/W4412945862","https://openalex.org/W4414057404"],"related_works":["https://openalex.org/W7223455898","https://openalex.org/W4402017489","https://openalex.org/W4386554475","https://openalex.org/W4399679804","https://openalex.org/W3023812659","https://openalex.org/W3009558747","https://openalex.org/W3201890200","https://openalex.org/W4283746509","https://openalex.org/W4408220232","https://openalex.org/W2943786317"],"abstract_inverted_index":{"CDKL5":[0,68,101],"deficiency":[1,69],"disorder":[2],"(CDD)":[3],"is":[4,112],"a":[5,72],"rare":[6],"developmental":[7],"epileptic":[8],"encephalopathy":[9],"(DEE)":[10],"caused":[11],"by":[12,67],"mutations":[13],"in":[14,110,127,132,149,173,195],"cyclin-dependent":[15],"kinase-like":[16],"5":[17],"(CDKL5).":[18],"The":[19,35,176],"clinical":[20],"manifestations":[21],"include":[22],"early":[23],"and":[24,31,44,52,81,97,161,171,205],"severe":[25],"epilepsy,":[26],"intellectual":[27],"disability,":[28],"motor":[29],"abnormalities,":[30],"cortical":[32],"visual":[33],"impairments.":[34],"pathophysiological":[36],"mechanisms":[37,80],"underlying":[38,57,78,211],"CDD":[39,111,174],"are":[40,47,65],"not":[41,54],"fully":[42],"understood,":[43],"current":[45],"treatments":[46],"limited":[48],"to":[49,120],"symptomatic":[50],"management":[51],"do":[53],"target":[55],"the":[56,60,77,91,104,122,128,133,150,180,191],"cause.":[58],"Characterizing":[59],"downstream":[61],"molecular":[62,79],"pathways":[63],"that":[64,179],"disrupted":[66],"may":[70,200],"provide":[71,207],"more":[73],"complete":[74],"understanding":[75],"of":[76,94,100,106,130,152,182],"yield":[82],"therapeutic":[83],"strategies.":[84],"Previous":[85],"studies":[86],"have":[87],"focused":[88],"on":[89,190],"mapping":[90],"differential":[92],"expression":[93,151],"protein-coding":[95],"genes":[96],"post-translational":[98],"modifications":[99],"targets,":[102],"but":[103],"role":[105],"non-coding":[107,124,192],"RNAs":[108],"(ncRNAs)":[109],"unknown.":[113],"Here":[114],"we":[115],"performed":[116],"small":[117],"RNA":[118,125],"sequencing":[119],"define":[121],"short":[123],"landscape":[126,194],"hippocampus":[129],"mice":[131],"Cdkl5":[134],"exon":[135],"6":[136],"deletion":[137],"mouse":[138],"model":[139],"(12-week-old":[140],"heterozygous":[141],"mice).":[142],"Our":[143],"findings":[144,177],"catalog":[145],"extensive":[146,188],"bi-directional":[147],"alterations":[148],"multiple":[153],"ncRNA":[154],"species":[155],"including":[156],"microRNAs,":[157],"tRNAs,":[158],"piwi-RNAs,":[159],"snoRNAs,":[160],"snRNAs.":[162],"We":[163],"further":[164],"validated":[165],"two":[166],"dysregulated":[167,198],"miRNAs,":[168],"namely,":[169],"miRNA-200c-3p":[170],"miRNA-384-3p,":[172],"mice.":[175],"reveal":[178],"loss":[181],"this":[183],"single":[184],"gene":[185],"has":[186],"an":[187],"impact":[189],"transcriptional":[193],"CDD.":[196],"Such":[197],"ncRNAs":[199],"hold":[201],"potential":[202],"as":[203],"biomarkers":[204],"could":[206],"valuable":[208],"insights":[209],"into":[210],"disease":[212],"mechanisms.":[213]},"counts_by_year":[{"year":2026,"cited_by_count":3}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2025-11-17T00:00:00"}